Linked Data
ClinVar Variation Id:
2927210
ClinVar RCV Id:
RCV003781400
dbSNP Id:
rs768719934
ExAC:
14:21780597 GGAGA / G
gnomAD v2:
14-21780597-GGAGA-G
gnomAD v4:
14-21312438-GGAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312442_21312445del , CM000676.2:g.21312442_21312445del | GRCh38 |
| NC_000014.8:g.21780601_21780604del , CM000676.1:g.21780601_21780604del | GRCh37 |
| NC_000014.7:g.20850441_20850444del | NCBI36 |
| NG_008933.1:g.29466_29469del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1087_1090del MANE Select | ENSP00000382895.2:p.Arg363LeufsTer11 | |
| ENST00000400017.6:c.1087_1090del | ENSP00000382895.2:p.Arg363LeufsTer11 | |
| ENST00000556336.5:c.1006_1009del | ENSP00000450445.1:p.Arg336LeufsTer11 | |
| ENST00000557771.5:c.1006_1009del | ENSP00000451219.1:p.Arg336LeufsTer11 | |
| NM_020366.3:c.1087_1090del | NP_065099.3:p.Arg363LeufsTer11 | |
| XM_011536983.1:c.1054_1057del | XP_011535285.1:p.Arg352LeufsTer11 | |
| NM_020366.4:c.1087_1090del MANE Select | NP_065099.3:p.Arg363LeufsTer11 |